Table 5.
The clinical characteristics recorded for patients with negative and pathogenic CMA results.
| Signs/Symptoms | In the cohort (N = 417) | Negative (N = 295)# | Pathogenic (N = 75)# | p-value | Odds ratio |
|---|---|---|---|---|---|
| CHARACTERISTICS | |||||
| Obesity | 4% (16/417) | 2% (6) | 9% (7) | 0.006*f | 0.20 |
| Low weight | 7.5% (31/417) | 6% (18) | 13% (10) | 0.061 | 0.42 |
| Abnormal growth | 3% (12/417) | 3% (8) | 5% (4) | 0.277f | 0.49 |
| Short stature | 11% (45/417) | 9% (27) | 19% (14) | 0.032* | 0.44 |
| Slender build | 7% (30/417) | 6% (19) | 8% (6) | 0.823 | 0.79 |
| Prenatal problems | 6% (25/417) | — | — | ||
| Positive family history | 18% (75/417) | 16% (48) | 19% (14) | 0.074 | 0.84 |
| of Intellectual disability or developmental delay | 13% (54/417) | — | — | — | |
| of Congenital anomalies | 6.5% (27/417) | — | — | — | |
| of Psychiatric disorder | 7% (30/417) | — | — | — | |
| NEURODEVELOPMENT | — | — | — | ||
| Developmental delay | 67% (281/417) | 64% (188) | 76% (57) | 0.061 | 0.55 |
| Motor development delay | 11% (47/417) | 9% (28) | 12% (9) | 0.666 | 0.76 |
| Deafness or hearing loss | 2% (10/417) | 2% (6) | 4% (3) | 0.394f | 0.49 |
| Speech and language delay and/or dyslalia | 33% (137/417) | 35% (102) | 36% (27) | 0.924 | 0.93 |
| Difficulty of learning | 10% (44/417) | 10% (31) | 8% (6) | 0.667 | 1.34 |
| Intellectual disability | 41% (171/417) | 39% (115) | 47% (35) | 0.280 | 0.73 |
| Mild | 6% (26/417) | — | — | ||
| Moderate | 2% (10/417) | — | — | ||
| Severe | 4% (18/417) | — | — | ||
| Not Specified | 28% (117/417) | — | — | ||
| Intellectual disability and/or developmental delay | 80% (334/417) | 77% (227) | 76% (57) | 0,983 | 1.05 |
| BEHAVIORAL | — | — | |||
| Behavioral changes (Obsessive-compulsive disorder, attention deficit hyperactivity disorder, self and hetero-aggression, behavior disorder, psychosis) | 19% (78/417) | 18% (53) | 20% (15) | 0.811 | 0.876 |
| Autism Spectrum Disorder | 32% (134/417) | 35% (102) | 21% (16) | 0.039* | 1.94 |
| Syndromic Autism | 11% (44/417) | — | — | ||
| Asperger Syndrome | 2% (7/417) | — | — | ||
| Non-Syndromic Autism | 20% (83/417) | — | — | ||
| CONGENITAL MALFORMATION(S) AND/OR DYSMORPHISM(S) | 58.5% (244/417) | — | — | ||
| FACIAL MALFORMATIONS/DYSMORPHISMS | 53% (222/417) | 47% (139) | 73% (55) | <0,0001* | 0,32 |
| Long face | 2% (10/417) | — | — | ||
| Wide face | 0% (1/417) | — | — | ||
| Narrow face | 1% (4/417) | — | — | ||
| Triangular face | 1% (3/417) | — | — | ||
| Asymetrical face | 2% (9/417) | — | — | ||
| Cleft palate | 3% (12/417) | — | — | ||
| Micrognathia | 3% (13/417) | — | — | ||
| Mouth/Lips (unusual) | 5% (21/417) | — | — | ||
| Microcephaly (Craniosynostosis included) | 8% (33/417) | — | — | ||
| Macrocephaly | 3% (13/417) | — | — | ||
| Ears (dysmorphic) | 11% (46/417) | — | — | ||
| Eyes (unusual) | 16% (68/417) | — | — | ||
| Forehead (unusual) | 2% (7/417) | — | — | ||
| Eyebrows (unusual) | 2% (7/417) | — | — | ||
| Nose (unusual) | 5% (25/417) | — | — | ||
| Hair (unusual) | 2% (10/417) | — | — | ||
| Not Specified | 18% (76/417) | — | — | ||
| OTHER CONGENITAL MALFORMATIONS | — | — | |||
| Musculoskeletal (scoliosis, diaphragmatic hernia, vertebral anomaly) | 19% (78/417) | 8% (24) | 4% (3) | 0.326 | 2.12 |
| Upper limb anomalies | 8% (33/417) | 7% (22) | 8% (6) | 1 | 0.92 |
| Lower limb anomalies | 7% (30/417) | 9% (27) | 13% (10) | 0.388 | 0.65 |
| Heart anomalies and malformations | 9% (36/417) | 8% (23) | 12% (9) | 0.354 | 0.62 |
| Gastrointestinal anomalies and malformations | 8% (34/417) | 6% (18) | 9% (7) | 0.460 | 0.63 |
| Genitourinary anomalies and malformations | 6% (25/417) | 5% (16) | 13% (10) | 0.032* | 0.37 |
| NEUROLOGIC ABNORMALITY | 37% (155/417) | 30% (88) | 35% (26) | 0.502 | 0.80 |
| Epilepsy and/or seizures | 15% (61/417) | — | — | ||
| Ataxia | 2% (9/417) | — | — | ||
| Hypotonia | 8% (32/417) | — | — | ||
| Abnormal brain structure | 13% (53/417) | — | — | ||
| Endocrinological abnormalities | 5% (23/417) | 4% (12) | 7% (5) | 0.354f | 0.59 |
|
CUTANEOUS ABNORMALITIES (hyper and hypopigmentation, hemangioma, freckles, café-au-lait spots and others) |
4% (19/417) | 3% (10) | 7% (5) | 0.198f | 0.49 |
| HEMATOLOGIC ABNORMALITIES | 3% (14/417) | 3% (9) | 3% (2) | 1f | 1.14 |
#Patients with VOUS as most relevant CNV found were excluded from the correlation, because they represent inconclusive diagnosis. *Significant statistical correlation found between pathogenic CNV and phenotype. fIn phenotypes with n < 20, Fisher’s test was more appropriate.